Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03047:Speer4c1'

392224

Institutional Source

Beutler Lab

Gene Symbol

Speer4c1

Ensembl Gene

ENSMUSG00000073208

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4C1

Synonyms

Speer4c, SPEER-4C, 4933431D05Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

IGL03047 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

15914499-15919269 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to C at 15919214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095005] [ENSMUST00000179506]

AlphaFold

G3UXD1

Predicted Effect

probably benign
Transcript: ENSMUST00000095005

SMART Domains

Protein: ENSMUSP00000133641
Gene: ENSMUSG00000073208

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.1e-30	PFAM
low complexity region	248	255	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162113

Predicted Effect

probably benign
Transcript: ENSMUST00000179506

SMART Domains

Protein: ENSMUSP00000136269
Gene: ENSMUSG00000073208

Domain	Start	End	E-Value	Type
Pfam:Takusan	49	135	2.8e-25	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,246,568 (GRCm39)	H21Q	possibly damaging	Het
4933427D14Rik	A	G	11: 72,057,552 (GRCm39)	I749T	possibly damaging	Het
Adam22	A	G	5: 8,132,220 (GRCm39)	S869P	probably damaging	Het
Add3	A	G	19: 53,231,022 (GRCm39)	T566A	probably benign	Het
Asic3	A	C	5: 24,618,788 (GRCm39)	M27L	probably benign	Het
Atp2c1	T	A	9: 105,398,206 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,535,934 (GRCm39)		probably benign	Het
Ccr7	C	T	11: 99,036,160 (GRCm39)	R254H	probably benign	Het
Cdk2ap1	G	T	5: 124,486,753 (GRCm39)	A63E	possibly damaging	Het
Cfap70	T	C	14: 20,498,646 (GRCm39)	T14A	possibly damaging	Het
Cldn11	T	A	3: 31,217,256 (GRCm39)	F141L	probably damaging	Het
Comp	G	T	8: 70,827,559 (GRCm39)	A107S	possibly damaging	Het
Cyp2b23	A	T	7: 26,380,892 (GRCm39)		probably benign	Het
Cyp2c68	T	G	19: 39,722,904 (GRCm39)	I215L	probably benign	Het
Cyp4f17	T	A	17: 32,743,023 (GRCm39)	I232K	possibly damaging	Het
Dram2	T	G	3: 106,480,345 (GRCm39)	F219L	probably damaging	Het
Fam186a	G	A	15: 99,843,589 (GRCm39)	A885V	unknown	Het
Fbxo42	A	G	4: 140,926,853 (GRCm39)	T378A	possibly damaging	Het
Frmpd1	T	A	4: 45,283,993 (GRCm39)	V938E	probably damaging	Het
Gramd1c	C	A	16: 43,808,610 (GRCm39)	L489F	probably damaging	Het
Il17ra	T	C	6: 120,458,187 (GRCm39)	I446T	probably damaging	Het
Il36g	G	A	2: 24,082,719 (GRCm39)	A165T	probably damaging	Het
Kcne4	G	T	1: 78,795,495 (GRCm39)	V48F	possibly damaging	Het
Ly6g6c	T	A	17: 35,288,325 (GRCm39)		probably null	Het
Mars2	A	G	1: 55,278,032 (GRCm39)	Y545C	probably benign	Het
Mmp12	T	G	9: 7,357,797 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,930,409 (GRCm39)		probably benign	Het
Nop14	C	T	5: 34,817,358 (GRCm39)	R11K	possibly damaging	Het
Npas3	T	A	12: 53,878,470 (GRCm39)		probably benign	Het
Odf2	A	T	2: 29,810,907 (GRCm39)		probably benign	Het
Or2y1d	A	G	11: 49,321,794 (GRCm39)	M164V	probably benign	Het
Or5p73	T	C	7: 108,064,983 (GRCm39)	S151P	probably damaging	Het
Or5w16	A	G	2: 87,577,338 (GRCm39)	Y266C	possibly damaging	Het
Or6s1	A	G	14: 51,308,613 (GRCm39)	I79T	possibly damaging	Het
Otud7b	T	C	3: 96,058,301 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,596,799 (GRCm39)	Y747H	probably damaging	Het
Runx1t1	G	A	4: 13,865,882 (GRCm39)	V357I	probably damaging	Het
Seh1l	C	G	18: 67,922,520 (GRCm39)	T291R	probably damaging	Het
Sulf2	G	T	2: 165,922,814 (GRCm39)		probably null	Het
Tent4a	C	A	13: 69,651,030 (GRCm39)	D369Y	probably damaging	Het
Tex14	C	T	11: 87,427,530 (GRCm39)	S1174F	probably damaging	Het
Tm9sf4	A	G	2: 153,003,326 (GRCm39)		probably benign	Het
Vmn2r7	G	A	3: 64,614,639 (GRCm39)	H392Y	possibly damaging	Het
Zfhx4	T	A	3: 5,308,793 (GRCm39)	V673D	probably damaging	Het

Other mutations in Speer4c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02796:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02799:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02802:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02837:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02984:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02988:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL02991:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03014:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03046:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03050:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03055:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03097:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03098:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03134:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03138:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
IGL03147:Speer4c1	UTSW	5	15,919,214 (GRCm39)	utr 5 prime	probably benign
R2122:Speer4c1	UTSW	5	15,919,115 (GRCm39)	missense	possibly damaging	0.67
R7176:Speer4c1	UTSW	5	15,916,536 (GRCm39)	missense	probably benign	0.00
R7849:Speer4c1	UTSW	5	15,915,925 (GRCm39)	critical splice acceptor site	probably null
R8996:Speer4c1	UTSW	5	15,915,886 (GRCm39)	missense	probably benign	0.35
R9747:Speer4c1	UTSW	5	15,916,652 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTACTGGAAAGGCCACCTCAG -3'
(R):5'- CAGCTCAGCTTCCTGTCAGTAC -3'

Sequencing Primer
(F):5'- GGAAGCTCAACATCCACTTCC -3'
(R):5'- TGTCAGTACAGGGAGAACATTAGC -3'

Posted On

2016-06-09